Below is a summary for Xp11.22 microduplication syndrome observed in research publications. This is not meant to take the place of medical advice.
What is Xp11.22 microduplication syndrome?
Xp11.22 microduplication syndrome happens when a person has an extra piece of the X chromosome. The extra piece can affect learning and how the body develops.
There are several genes within the Xp11.22 region of the X chromosome that are involved in intellectual disability. This condition can affect males and females.
Because the Xp11.22 region is important for the proper function of the body’s cells, some people may have:
- Delayed speech and language development
- Intellectual disability
- Husky or nasal voice
- Early puberty
- Motor delay
Do people who have Xp11.22 microduplication syndrome look different?
People with Xp11.22 microduplication syndrome may look different. Appearance can vary and can include some but not all of these features:
- Lower leg or feet defects
- Bushy eyebrows
- Thin upper lip
- Tapering fingers
How many people have Xp11.22 microduplication syndrome?
As of 2022, about 90 people with Xp11.22 microduplication syndrome have been described in medical research.
Research Article Summaries